glycogen storage disease VII (DOID:11721)
Alliance: disease page
Synonyms: Glycogen storage disease 7; glycogen storage disease type VII; Glycogen storage disease, type VII; Muscle phosphofructokinase deficiency; phosphofructokinase myopathy
Alt IDs: OMIM:232800, ICD10CM:E74.09, MESH:D006014, NCI:C118437, UMLS_CUI:C0017926
Definition: A glycogen storage disease that is characterized by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis and that has_material_basis_in homozygous or compound heterozygous mutation in the PFKM gene, which encodes muscle phosphofructokinase, on chromosome 12q13.